A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6488395



Internal ID21145948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45245601..45248200hg38UCSC Ensembl
chr13:45819736..45822335hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18009165
Samples
Known GenesGTF2F2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6488395
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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